HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328397T>G , CM000664.2:g.29328397T>G | GRCh38 |
NC_000002.11:g.29551263T>G , CM000664.1:g.29551263T>G | GRCh37 |
NC_000002.10:g.29404767T>G | NCBI36 |
NG_009445.1:g.598170A>C , LRG_488:g.598170A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1367A>C MANE Select | ENSP00000373700.3:p.Asp456Ala | |
ENST00000389048.7:c.1367A>C | ENSP00000373700.3:p.Asp456Ala | |
ENST00000618119.4:c.236A>C | ENSP00000482733.1:p.Asp79Ala | |
NM_004304.4:c.1367A>C | NP_004295.2:p.Asp456Ala | |
XR_939920.1:n.705T>G | ||
XR_939921.1:n.680+5869T>G | ||
XR_001738688.2:n.2297A>C | ||
XR_939920.2:n.595T>G | ||
XR_939921.2:n.576+5869T>G | ||
NM_004304.5:c.1367A>C MANE Select | NP_004295.2:p.Asp456Ala |